Research Approaches to Improve the Care and Outcomes of People Living with Spina Bifida

项目/摘要摘要 脊柱裂(SB)是最常见的永久性致残出生缺陷。仅在美国，它就是 估计有超过15万人与某人生活在一起。考虑到某人的高度医疗复杂性，许多人 患有SB的患者通常表现出许多共病(例如，脊髓栓系综合征、肠/膀胱 大小便失禁、皮肤溃疡、认知缺陷等)。随后，作为成年人，他们往往有较低的健康相关 生活质量、高等教育参与度较低、就业率较低。其中很大一部分是在- 成就可以追溯到早期的神经发育缺陷。然而，早期的风险因素导致 对于这些糟糕的神经发育结果，人们仍然没有足够的了解。同时，与 产前脊髓膜脑膨出修补术的增殖及其与早产相关的风险，需要 阐明胎儿修复对长期神经发育结果的影响已变得比 永远不会。我们早期的研究比较了微创胎儿(胎儿镜)手术和产前剖宫产手术 脊髓脊膜膨出修补术，表明除了阴道足月分娩外，那些在胎儿镜下进行修补者 表现出与使用开放手术修复的患者在神经外科、运动和泌尿学方面的相似结果- 子宫切开入路。此外，国家脊柱裂患者登记(NSBPR)出版物有 这表明，在这个国家样本中可能存在一些种族/民族健康差异。这样做的目的是 建议调查与产前脊髓膜脑膨出修补术相关的结局，同时调查 如果在接受后续护理方面存在基于种族/族裔的差异。在目标1中，我们将研究 不同胎儿脊髓脊膜膨出修补术与神经外科疗效的关系 确定护理的最佳实践标准。在目标2中，我们将研究神经源性膀胱与 和自我管理、种族/民族和胎儿脊髓脊膜膨出修复，以促进最佳做法 膀胱可控性指南。最后，在目标3中，我们将评估两国关系中的差异 种族/族裔和接受预防皮肤破裂或脊髓栓系综合征干预的情况 以确定并解决已确定的任何差异。我们预计这些研究将会比较神经外科 和泌尿学结果在全国样本中胎儿MMC修复方法，并检查是否存在差异 与接受干预措施和结果有关。

PROJECT/SUMMARY ABSTRACT Spina bifida (SB) is the most common permanently disabling birth defect. In the United States alone, it is estimated that more than 150,000 individuals live with SB. Given the high medical complexity of SB care many individuals with SB often exhibit numerous comorbidities (e.g., tethered cord syndrome, bowel/bladder incontinence, skin ulcers, cognitive deficits, etc.). Subsequently as adults, they often have a lower health-related quality of life, participate less in higher education, and have lower rates of employment. Much of this under- attainment can be traced back to early neurodevelopmental deficits. However, the early risk factors contributing to these poor neurodevelopmental outcomes are still insufficiently understood. Concurrently, with the proliferation of prenatal myelomeningocele repair and its associated risk for premature birth, the need for elucidating the impact of fetal repair on long-term neurodevelopmental outcomes has become more urgent than ever. Our early studies comparing minimally invasive fetal (fetoscopic) surgery to open-hysterotomy prenatal myelomeningocele repair, show that in addition to vaginal term births, those who were repaired fetoscopically demonstrate comparable neurosurgical, motor, and urological outcomes to those repaired using the open- hysterotomy approach. Furthermore, National Spina Bifida Patient Registry (NSBPR) publications have demonstrated that some racial/ethnic health disparities may exist in this national sample. The goal of this proposal is to investigate the outcomes related to prenatal myelomeningocele repair and concurrently investigate if differences in the receipt of subsequent care exist based on race/ethnicity. In Aim 1, we will examine the relationship between different approaches to fetal myelomeningocele repair and neurosurgical outcomes in order to identify best practice standards of care. In Aim 2, we will examine the relationship between neurogenic bladder and self-management, race/ethnicity, and fetal myelomeningocele repair in order to promote best practice guidelines for bladder continence. Lastly in Aim 3, we will evaluate for disparities in the relationship between race/ethnicity and the receipt of intervention for skin breakdown prevention or tethered cord syndrome in order to identify and address any difference identified. We expect that these studies will compare the neurosurgical and urologic outcomes of fetal MMC repair approaches in a national sample, and examine if disparities exist in relation to the receipt of interventions and outcomes.